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rs587782717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs587782717(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32340446
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587782717
dbSNP (classic)rs587782717
ClinGenrs587782717
ebirs587782717
HLIrs587782717
Exacrs587782717
Gnomadrs587782717
Varsomers587782717
LitVarrs587782717
Maprs587782717
PheGenIrs587782717
Biobankrs587782717
1000 genomesrs587782717
hgdprs587782717
ensemblrs587782717
geneviewrs587782717
scholarrs587782717
googlers587782717
pharmgkbrs587782717
gwascentralrs587782717
openSNPrs587782717
23andMers587782717
SNPshotrs587782717
SNPdbers587782717
MSV3drs587782717
GWAS Ctlgrs587782717
Max Magnitude6

aka c.6091dupA (p.Thr2031Asnfs)

ClinVar
Risk rs587782717(A;A)
Alt rs587782717(A;A)
Reference Rs587782717(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914583dupA
CLNSRC
CLNACC RCV000132198.2, RCV000241476.1,